Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
36 | 0.633 | 0.720 | 4 | 153704257 | synonymous variant | T/C | snv | 9.0E-02 | 6.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2010 | 2015 | ||||
|
40 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
15 | 0.732 | 0.560 | 9 | 117702866 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
41 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
29 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
14 | 0.763 | 0.320 | 12 | 68251271 | intron variant | C/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.851 | 0.120 | 10 | 102878966 | missense variant | T/A;C | snv | 9.2E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.827 | 0.120 | 5 | 1294051 | missense variant | C/T | snv | 2.2E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.882 | 0.080 | 11 | 126406065 | 5 prime UTR variant | T/A;C | snv | 6.4E-06; 0.41 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 20 | 62465397 | synonymous variant | C/G;T | snv | 0.49; 1.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 62465895 | missense variant | C/G;T | snv | 9.2E-06; 0.47 | 0.54 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 10 | 102863821 | 3 prime UTR variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 |